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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
BACKGROUND: The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references. This hinders the correct identification of variants with minor and/or pathogenic reference alleles warranting additional approac...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769444/ https://www.ncbi.nlm.nih.gov/pubmed/29334895 http://dx.doi.org/10.1186/s12864-018-4433-3 |